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@ARTICLE{Reid:281531,
      author       = {Reid, Madigan M and Menon, Shreya and Liu, Hao and Zhou,
                      Haoyue and Hu, Zhirui and Frerich, Simon and Ding, Bella and
                      Oveisgharan, Shahram and Zhang, Zimo and Nelson, Sophia and
                      Apolonio, Amanda and Bennett, David A and Dichgans, Martin
                      and Pollard, Katherine S and Corces, M Ryan and Yang, Andrew
                      C},
      title        = {{H}uman brain vascular multi-omics elucidates disease-risk
                      associations.},
      journal      = {Neuron},
      volume       = {113},
      number       = {19},
      issn         = {0896-6273},
      address      = {[Cambridge, Mass.]},
      publisher    = {Cell Press},
      reportid     = {DZNE-2025-01149},
      pages        = {3143 - 3161.e5},
      year         = {2025},
      abstract     = {Cerebrovascular dysfunction underlies many neurological
                      disorders, yet how genetic variants in brain vascular cells
                      drive disease risk remains unknown. We developed
                      MultiVINE-seq to simultaneously profile RNA and chromatin
                      accessibility in vascular, perivascular, and immune cells
                      from 30 human brains. Mapping genome-wide association study
                      (GWAS) data to our multi-omic atlas linked thousands of GWAS
                      disease-risk variants to target cell types and genes,
                      including 2,605 previously unmapped. We found
                      cerebrovascular and neurodegenerative disease variants have
                      distinct mechanisms: cerebrovascular disease variants
                      disrupt extracellular matrix genes in endothelial, mural,
                      and fibroblast cells important for vessel structural
                      integrity, while Alzheimer's disease (AD) variants
                      dysregulate inflammatory adaptor proteins in endothelial and
                      immune cells. Notably, a lead AD variant enhances PTK2B
                      expression in brain CD8 T cells, providing genetic evidence
                      for adaptive immunity in AD pathogenesis. This work provides
                      a key resource for interpreting genetic risk and reveals how
                      variants in vascular cells drive divergent pathogenic
                      mechanisms across neurological diseases.},
      keywords     = {Humans / Genome-Wide Association Study / Brain: blood
                      supply / Brain: metabolism / Alzheimer Disease: genetics /
                      Genetic Predisposition to Disease: genetics /
                      Cerebrovascular Disorders: genetics / Female / Male / Focal
                      Adhesion Kinase 2: genetics / Focal Adhesion Kinase 2:
                      metabolism / Multiomics / Alzheimer's disease (Other) / T
                      cell (Other) / brain vasculature (Other) / cerebrovascular
                      disease (Other) / macrophage (Other) / microglia (Other) /
                      neurodegenerative disease (Other) / non-coding disease-risk
                      variants (Other) / single-cell multi-omics (Other) / stroke
                      (Other) / Focal Adhesion Kinase 2 (NLM Chemicals)},
      cin          = {AG Dichgans},
      ddc          = {610},
      cid          = {I:(DE-2719)5000022},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40730185},
      pmc          = {pmc:PMC12321221},
      doi          = {10.1016/j.neuron.2025.07.001},
      url          = {https://pub.dzne.de/record/281531},
}